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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Cranio-osteoarthropathy

ORPHA:1525Порок
Autosomal recessive

Craniodiaphyseal dysplasia

ORPHA:1513Порок
Autosomal dominant, Autosomal recessive, Not applicable

Craniodigital-intellectual disability syndrome

ORPHA:1514Порок
Autosomal recessive, X-linked recessive

Cranioectodermal dysplasia

ORPHA:1515Порок
Autosomal recessive

Craniofacial conodysplasia

ORPHA:85168Порок
Autosomal dominant

Craniofacial dysostosis-diaphyseal hyperplasia syndrome

ORPHA:1798Порок
Autosomal dominant

Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

ORPHA:459061Порок
Autosomal recessive

Craniofacial-deafness-hand syndrome

ORPHA:1529Порок
Autosomal dominant

Craniofaciofrontodigital syndrome

ORPHA:363705Заболевание
Unknown

Craniofrontonasal dysplasia

ORPHA:1520Порок
X-linked dominant

Craniofrontonasal dysplasia-Poland anomaly syndrome

ORPHA:1521Порок
Unknown

Craniolenticulosutural dysplasia

ORPHA:50814Порок
Autosomal recessive

Craniometadiaphyseal dysplasia, wormian bone type

ORPHA:85184Порок
Autosomal recessive

Craniometaphyseal dysplasia

ORPHA:1522Порок
Autosomal dominant, Autosomal recessive

Craniomicromelic syndrome

ORPHA:1524Порок

Craniopharyngioma

ORPHA:54595Заболевание
Not applicable

Craniorachischisis

ORPHA:63260Морф.
Multigenic/multifactorial, Not applicable

Craniorhiny

ORPHA:157832Порок

Craniosynostosis

ORPHA:1531Кат.
Autosomal dominant, Autosomal recessive, Not applicable, Unknown, X-linked recessive

Craniosynostosis, Boston type

ORPHA:1541Порок
Autosomal dominant

Craniosynostosis, Herrmann-Opitz type

ORPHA:2145Порок

Craniosynostosis, Philadelphia type

ORPHA:1527Порок
Autosomal dominant

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

ORPHA:1538Порок
Autosomal dominant

Craniosynostosis-anal anomalies-porokeratosis syndrome

ORPHA:85199Порок
Autosomal recessive